A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16967227



Internal ID45464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78510510..78521339hg38UCSC Ensembl
chr5:77806333..77817162hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3810830
hg1910830
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5465720
Supporting Variants
Samples
Known GenesLHFPL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16967227
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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